Product Details

SNP ID

rs200232501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17337646 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTTTGGACCCTGGCGGCCCAAG[C/G]GGCACGTGGGCCTCGCAGGTGGGGC

Phenotype

MIM: 610216 MIM: 608536

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ANO8 PubMed Links

Gene Details

Gene

ANO8

Gene Name

anoctamin 8

There are no transcripts associated with this gene.

Gene

GTPBP3

Gene Name

GTP binding protein 3 (mitochondrial)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128855.2	130	Missense Mutation	GCG,GGG	A12G	NP_001122327.1
NM_001195422.1	130	Intron			NP_001182351.1
NM_032620.3	130	Missense Mutation	GCG,GGG	A12G	NP_116009.2
NM_133644.3	130	Missense Mutation	GCG,GGG	A12G	NP_598399.2

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